Results 311 to 320 of about 121,688 (385)

Pre-symptomatic risdiplam treatment for spinal muscular atrophy initiated at 12 days post-birth: 14-month safety and developmental outcomes. [PDF]

Pediatr Investig
Sun Z, Wu L, Hui Y, Zhong Y, Yang J, Sun Z, Huang X, Xiong H.   +7 more
europepmc   +1 more source

THE PERONEAL FORM OR LEG-TYPE OF PROGRESSIVE MUSCULAR ATROPHY

B. Sachs
semanticscholar   +1 more source

Correlations between Dysphagia Severity Scale Scores and Clinical Indices in Individuals with Multiple System Atrophy

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dysphagia significantly impacts prognosis in individuals with multiple system atrophy (MSA). While video‐based assessments are practical, their limited availability highlights the need for a simple tool such as the Dysphagia Severity Scale (DSS) in clinical practice.
Ryunosuke Nagao, Yasuaki Mizutani, Kazuya Kawabata, Junichiro Yoshimoto, Yoko Inamoto, Seiko Shibata, Mizuki Ito, Yohei Otaka, Hirohisa Watanabe   +8 more
wiley   +1 more source

Interplay between microtubule interactome, myonuclei mechanotransduction, and positioning in myopathies. [PDF]

Nucleus
Castellano L, Caillol D, Streichenberger N, Gache V.   +3 more
europepmc   +1 more source

Impaired Respiratory Function as an Auxiliary Marker for Disease Progression in Different Motor Subtypes of Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The mechanisms underlying respiratory function impairments in different motor subtypes of Parkinson's disease (PD) remain poorly understood. Objectives This study aims to elucidate the differences in respiratory function between the two main PD motor subtypes, tremor‐dominant (TD) and postural instability gait difficulty (PIGD), and
Zhen Li, Tinglan Huang, Ning Zhou, Xiao Shen, Yanlin Wang, Pengcheng Huang, Qingqing Shi, Tingyu Cao, Yibo Zhi, Huiran Wang, Xiaodong Zhu   +10 more
wiley   +1 more source

The Role of mTOR in Amyotrophic Lateral Sclerosis. [PDF]

Biomedicines
Nogueira-Machado JA, Rocha-Silva F, Gomes NA.   +2 more
europepmc   +1 more source

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +1 more source

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Coskery S, Erdler M, Frey MR, Lopez MA.
europepmc   +1 more source

Association between Perceived Dysphagia Symptoms and Swallowing Physiology in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Swallowing disorders are prevalent in Parkinson's disease (PD). Swallowing assessment often relies on patient‐reported outcome measures (PROMs). Although PROMs and physiologic swallowing measures correlate with disease severity, the relationship between PROMs and physiologic swallowing impairments is unclear.
Rabab Rangwala, Mariana Mendes Bahia, Jing Song, Danny Bega, Bonnie Martin‐Harris   +4 more
wiley   +1 more source

<i>Drosophila melanogaster</i>: A Model Organism in Muscular Dystrophy Studies. [PDF]

Int J Mol Sci
Zhao Y, Wang Y, Tulehalede A, Meng Z, Xu L, Bai H, Sha J, Xie W, Geng J.   +8 more
europepmc   +1 more source